The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal hair quantity||90%|
|Abnormal immunoglobulin level||90%|
|Abnormal nasal morphology||90%|
|Abnormality of chromosome stability||90%|
|Abnormality of the upper urinary tract||90%|
|Attention deficit hyperactivity disorder||90%|
|Convex nasal ridge||90%|
|Decreased body weight||90%|
|Depressed nasal bridge||90%|
|Low anterior hairline||90%|
|Recurrent respiratory infections||90%|
|Upslanted palpebral fissure||90%|
|Aplasia/Hypoplasia of the thymus||50%|
|Abnormality of neuronal migration||7.5%|
|Non-midline cleft lip||7.5%|
|Skeletal muscle atrophy||7.5%|
|Autoimmune hemolytic anemia||-|
|Autosomal recessive inheritance||-|
|Cleft upper lip||-|
|Intrauterine growth retardation||-|
|Primary ovarian failure||-|
|Recurrent infection of the gastrointestinal tract||-|
|Recurrent urinary tract infections||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
15th International Workshop on Ataxia-Telangiectasia and ATM
Tuesday, February 7, 2012 -
Saturday, February 11, 2012
Location: India at the Habitat Center, Delhi, India
Description: This meeting will bring together established and emerging basic and clinical scientists from various countries to participate in highly interactive scientific discourses through the presentation of their findings and dissemination of knowledge on A-T and related disorders. The outcome of the meeting could result in collaborations and new approaches that have potential for advancing therapies for A-T and related diseases.
Contact: Dr. Danilo A. Tagle, NINDS(301) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
American Society for Microbiology (ASM) Conference on DNA Repair and Mutagenesis Saturday, May 30, 2009 -
Friday, June 5, 2009
Location: Fairmont Chateau Whistler, British Columbia, Canada
Description: The major goals of this conference were to disseminate novel, unpublished results; identify new technologies and clinical therapies; and foster new collaborations among participants. A hallmark of this conference is the exceptionally broad cross-section of participants in terms of research focus (basic, translational, and clinical), age (the large meeting venue draws many younger scientists, graduate students, and senior investigators; ASM committed $20,000 to subsidize graduate student travel), institutional affiliation (academia, government, private industry, and publishing), and geography. Numerous opportunities were provided for in-depth discussion during and after sessions and at meals, including the popular evening poster sessions to promote informal interactions among all participants.
Contact: Dr. Peggy Hsieh, NIDDK 301-496-0306
Co-funding Institute(s): National Institute of Diabetes and Digestive and Kidney Diseases